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Anyone have a child with Alpha 1 antitrypsin deficiency?

luckylady55luckylady55
in Special Needs

Hi LAdies,

My son is being tested for this disorder, if any of you have dealt with this could you please answer some questions for me. 

1. When did the disorder present?

2. How did they confirm?

3. How long did it take for you to get a definitive diagnosis?

4. What have they told you about for the long term?

I have been doing some reading on it and am really scared and need to get some ideas of what to ask the doctors and what testing to expect.

TIA

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Re: Anyone have a child with Alpha 1 antitrypsin deficiency?

  • sarbear36sarbear36 member
    We dont have alpha 1 antitypsin deficiency but my 8 month old is being tested for a bunch on intersticial lung diseases.  What signs did your little one show that is leading to drs testing for Alpha1?  My little girl has been hospitalized 4 times since christmas.  She breathes fast 60-80 breaths a min with retractions and requires occasional oxygen.  We are working with the pedi pulmonologist to schedule a high resolution CT scan than a lung biopsy which should hopefully give us a diagnoisis.  Best of luck to you. 
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  • Bob CampbellBob Campbell

    Alpha-1 is tested with a simple, highly accurate blood test.

    It's genetic and can cause lung disease in adults and liver disease in children and adults, too. It can show up as early as a newborn child. More than half of babies with jaundice or elevated liver enzymes due to Alpha-1 have normal liver function by the time they're 18.

    If your little boy has Alpha-1, it would be a good idea to get a consultation from a liver specialist.

    For more information, see the Alpha-1 Foundation website section on Alpha-1 liver disease.

    My best to you and your family.
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  • Bob CampbellBob Campbell

    Should have given you a link to the liver information:

    https://www.alpha-1foundation.org/alphas/?c=04-Alpha-1-Liver-Disease

    Bob Campbell

    Communications Manager

    Alpha-1 Foundation

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